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  • Title: [The Fanconi-Bickel syndrome].
    Author: Velásquez L, Portillo VH, Sanjinés R, Gamboa JD, Feria-Kaiser C, Valencia P.
    Journal: Bol Med Hosp Infant Mex; 1991 Apr; 48(4):255-60. PubMed ID: 1867746.
    Abstract:
    This is a case of a 15-month-old child suffering from Fanconi-Bickel syndrome, characterized with Fanconi syndrome manifestations (glycosuria, amino aciduria and phosphaturia), and the build-up of glycogen in the liver in a similar manner as seen in cases of glycogenesis type Ia. Due to the presence of liver glycogenosis, the patient also has a tendency towards hypoglycemia, ketonuria, hypercholesterolemia and hypertriglyceridemia. The glycogenosis seen in the patients with the Fanconi-Bickel syndrome, does not depend on a defect in the activity of the glucose-6-phosphatase enzyme, but in fact is due to a defect in the transporter which mobilizes glucose and galactose in the liver and in the basolateral membrane of the proximal tubule of the kidney.
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